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Items: 1 to 20 of 35

1.

HEREDITARY PARTIAL AGENESIS OF CORPUS CALLOSUM; BIOCHEMICAL AND PATHOLOGICAL STUDIES.

MENKES JH, PHILIPPART M, CLARK DB.

Arch Neurol. 1964 Aug;11:198-208. No abstract available.

PMID:
14158525
2.

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.

Raynaud M, Dessay S, Ronce N, Opitz J, Pembrey M, Romano C, Moraine C, Briault S.

Eur J Hum Genet. 2003 Apr;11(4):352-6.

3.

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V.

Hum Genet. 2003 Feb;112(2):124-30. Epub 2002 Nov 13.

PMID:
12522552
4.

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S.

Am J Med Genet. 2002 Sep 15;112(1):6-11. Review.

PMID:
12239712
5.

SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex.

Zhou R, Bonneaud N, Yuan CX, de Santa Barbara P, Boizet B, Schomber T, Scherer G, Roeder RG, Poulat F, Berta P.

Nucleic Acids Res. 2002 Jul 15;30(14):3245-52. Erratum in: Nucleic Acids Res 2002 Sep 1;30(17):3917. Tibor Schomber [corrected to Schomber Tibor].

6.

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontes M, Poustka A, Moraine C.

Am J Med Genet. 2000 Nov 13;95(2):178-81.

PMID:
11078572
7.

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families.

Lossi AM, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C.

Am J Med Genet. 2000 Oct 23;94(5):386-8. No abstract available.

PMID:
11050623
8.

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

Friez MJ, Essop FB, Krause A, Castiglia L, Ragusa A, Sossey-Alaoui K, Nelson RL, May MM, Michaelis RC, Srivastava AK, Schwartz CE, Stevenson RE, Goldman A, Villard L, Longshore JW.

Hum Genet. 2000 Jan;106(1):36-9.

PMID:
10982179
9.

Esophageal dysmotility in brothers with an FG-like syndrome.

Smith RL, Edwards MJ, Notaras E, O'Loughlin EV.

Am J Med Genet. 2000 Mar 20;91(3):185-9.

PMID:
10756339
10.

The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA).

Philibert RA, Winfield SL, Damschroder-Williams P, Tengstrom C, Martin BM, Ginns EI.

Hum Genet. 1999 Jul-Aug;105(1-2):174-8.

PMID:
10480376
11.

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

Briault S, Odent S, Lucas J, Le Merrer M, Turleau C, Munnich A, Moraine C.

Am J Med Genet. 1999 Sep 10;86(2):112-4.

PMID:
10449643
12.

Clinical and behavioral characteristics in FG syndrome.

Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM.

Am J Med Genet. 1999 Aug 27;85(5):470-5.

PMID:
10405444
13.

Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators.

Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG.

Mol Cell. 1999 Mar;3(3):361-70.

14.

FG syndrome: report of three new families with linkage to Xq12-q22.1.

Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rogers C, Corning K, Schwartz CE.

Am J Med Genet. 1998 Nov 2;80(2):145-56.

PMID:
9805132
15.

Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998].

Rauch A, Opitz JM, Walker D.

Am J Med Genet. 1998 Aug 6;78(5):406-7. No abstract available.

PMID:
9714004
16.

Syndromic foramina parietalia permagna.

Chrzanowska K, Kozlowski K, Kowalska A.

Am J Med Genet. 1998 Aug 6;78(5):401-5.

PMID:
9714003
17.

A gene for FG syndrome maps in the Xq12-q21.31 region.

Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C.

Am J Med Genet. 1997 Nov 28;73(1):87-90.

PMID:
9375929
18.

cDNAs with long CAG trinucleotide repeats from human brain.

Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA.

Hum Genet. 1997 Jul;100(1):114-22.

PMID:
9225980
20.

A clinical follow-up of British patients with FG syndrome.

Romano C, Baraitser M, Thompson E.

Clin Dysmorphol. 1994 Apr;3(2):104-14.

PMID:
8055129

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